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  • Title: A new variant of von Willebrand disease (type II I) with a normal degree of proteolytic cleavage of von Willebrand factor.
    Author: Castaman G, Rodeghiero F, Lattuada A, Mannucci PM.
    Journal: Thromb Res; 1992 Feb 01; 65(3):343-51. PubMed ID: 1631800.
    Abstract:
    A variant of type II von Willebrand disease (vWd) is described in a young woman and her mother with severe lifelong bleeding histories. On electrophoresis with low-resolution agarose gels the plasma of the proband lacked large and intermediate-size multimers of von Willebrand factor (vWF) but the platelet multimeric structure was normal. On high-resolution gels, smaller multimers could be resolved into a broader central band and four satellite bands, which were much fainter than in normal plasma. In the proband plasma, the relative concentrations of proteolytic fragments of the vWF subunit were within the normal laboratory range. Since this variant of vWd appears to differ from those reported hitherto, the designation of type II I is proposed.
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